44,722 results match your criteria Autism research : official journal of the International Society for Autism Research[Journal]
Biol Psychol 2018 Dec 12. Epub 2018 Dec 12.
Department of Psychology and Neuroscience, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA; Department of Psychiatry, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC 27514, USA; Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC 27514, USA. Electronic address:
Accumulating evidence suggests that autism spectrum disorder (ASD) may be conceptualized within a framework of reward processing impairments. The "Social Motivation Theory of Autism" posits that reduced motivation to interact with people and decreased pleasure derived from social interactions may derail typical social development and contribute to the emergence of core social communication deficits in ASD. Neuroinflammation may disrupt the development of mesolimbic dopaminergic systems that are critical for optimal functioning of social reward processing systems. Read More
Genes Brain Behav 2018 Dec 15:e12547. Epub 2018 Dec 15.
Department of Physiology and Cell Biology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Individuals with autism constitute a variable population whose members are spread along the autism spectrum. Sub-populations within that spectrum exhibit other conditions, such as anxiety, intellectual disabilities, hyperactivity and epilepsy, with different severities and co-occurrences. Among the genes associated with the increased risk for autism is the methylenetetrahydrofolate-reductase (MTHFR) 677C>T polymorphism, which impairs one-carbon metabolic pathway efficiency. Read More
J Autism Dev Disord 2018 Dec 14. Epub 2018 Dec 14.
Autism Speaks, 1060 State Rd, Princeton, NJ, USA.
Utilizing the 2016 National Survey of Children's Health, this study illustrates that children with ASD have nearly 4 times higher odds of unmet health care needs compared to children without disabilities, whereas children with other disabilities had nearly 2 times higher odds of unmet health care needs compared to children without disabilities. Applying Andersen's Behavioral Model of health care utilization, this study estimates that enabling factors (e.g. Read More
J Pharmacol Exp Ther 2018 Dec 14. Epub 2018 Dec 14.
Molecular Imaging Center Antwerp;
Glutamate is the principal excitatory neurotransmitter in the brain and at the base of a wide variety of neuropathologies, including epilepsy, autism, Fragile X and obsessive compulsive disorder. Glutamate has so become the target for novel drugs in treatment and in fundamental research settings. However, much remains unknown on the working mechanisms of these drugs and the effects of chronic administration on the glutamatergic system. Read More
EMBO Rep 2018 Dec 14. Epub 2018 Dec 14.
Institute of Physiological Chemistry, Philipps-University Marburg, Marburg, Germany
Aberrant synaptic function is thought to underlie social deficits in neurodevelopmental disorders such as autism and schizophrenia. Although microRNAs have been shown to regulate synapse development and plasticity, their potential involvement in the control of social behaviour in mammals remains unexplored. Here, we show that deletion of the placental mammal-specific miR379-410 cluster in mice leads to hypersocial behaviour, which is accompanied by increased excitatory synaptic transmission, and exaggerated expression of ionotropic glutamate receptor complexes in the hippocampus. Read More
Psychiatry Res 2018 Dec 15;270:769-774. Epub 2018 Oct 15.
CREA (Research and Clinical Centre), San Sebastiano Foundation, Florence Italy. Electronic address:
The high prevalence of Problem Behaviours (PB) in persons with intellectual disability (ID) and Autism Spectrum Disorder (ASD) has been associated by some researchers to a proportionate frequency of Major Depressive Disorder (MDD), which have a different presentation in persons with ID and ASD than in the general population, mostly as behavioural changes. Nevertheless, evidence on this behavioural equivalency is still scarce. The present study aims at evaluating the rate of MDD in persons with ID and ASD presenting PB. Read More
Psychiatry Res 2018 Dec 29;270:764-768. Epub 2018 Oct 29.
Department of Mental Health and Addiction Services, ASST-Spedali Civili, Brescia, Italy; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
Autism spectrum disorder (ASD) and schizophrenia share several features. However, the assessment of ASD in schizophrenia is difficult. Aim of this study is to investigate the possibility to use the PANSS Autism Severity Score (PAUSS) to recognize autistic features in schizophrenia. Read More
Behav Brain Res 2018 Dec 11. Epub 2018 Dec 11.
Oregon Health & Science University, Portland, OR, United States; VA Portland Health Care System, Portland, OR. United States. Electronic address:
Sensory gating, the ability to suppress sensory information of irrelevant stimuli, is affected in several neuropsychiatric diseases, notably schizophrenia and autism. It is currently unclear how these deficits interact with other hallmark symptoms of these disorders, such as social withdrawal and difficulty with interpersonal relationships. The highly affiliative prairie vole (Microtus ochrogaster) may be an ideal model organism to study the neurobiology underlying social behavior. Read More
J Clin Psychiatry 2018 Nov 27;80(1). Epub 2018 Nov 27.
Centre for Addiction and Mental Health and University of Toronto, Toronto, Ontario, Canada.
The International Society of Psychiatric Genetics (ISPG) created a Residency Education Committee with the purpose of identifying key genetic knowledge that should be taught in psychiatric training programs. Thirteen committee members were appointed by the ISPG Board of Directors, based on varied training, expertise, gender, and national origin. The Committee has met quarterly for the past 2 years, with periodic reports to the Board and to the members of the Society. Read More
Autism Res 2018 Dec 14. Epub 2018 Dec 14.
Department of Pediatrics, Medical University of South Carolina, Charleston, SC, USA.
Ambulatory care sensitive (ACS) admissions are those for which effective primary care can prevent the need for emergency department (ED) visits and inpatient hospitalizations, and are an indicator of primary care access. Individuals with autism spectrum disorder (ASD) and/or intellectual disability (ID) may be at higher risk for ACS admissions than individuals in the general population due to difficulty accessing primary care. The objective of this study was to compare the incidence of ACS admissions among four cohorts of individuals aged 2-24 years: ASD without co-occurring ID (ASD-only), ASD with co-occurring ID (ASD + ID), ID without ASD (ID-only), and population controls (PC). Read More
Hum Brain Mapp 2018 Dec 13. Epub 2018 Dec 13.
Gillberg Neuropsychiatry Centre (GNC), University of Gothenburg, Gothenburg, Sweden.
Gamma oscillations facilitate information processing by shaping the excitatory input/output of neuronal populations. Recent studies in humans and nonhuman primates have shown that strong excitatory drive to the visual cortex leads to suppression of induced gamma oscillations, which may reflect inhibitory-based gain control of network excitation. The efficiency of the gain control measured through gamma oscillations may in turn affect sensory sensitivity in everyday life. Read More
J Anat 2018 Dec 13. Epub 2018 Dec 13.
Croatian Institute for Brain Research, School of Medicine, University of Zagreb, Zagreb, Croatia.
The objective of this paper was to collect normative data essential for analyzing the subplate (SP) role in pathogenesis of developmental disorders, characterized by abnormal circuitry, such as hypoxic-ischemic lesions, autism and schizophrenia. The main cytological features of the SP, such as low cell density, early differentiation of neurons and glia, plexiform arrangement of axons and dendrites, presence of synapses and a large amount of extracellular matrix (ECM) distinguish this compartment from the cell-dense cortical plate (CP; towards pia) and large fiber bundles of external axonal strata of fetal white matter (towards ventricle). For SP delineation from these adjacent layers based on combined cytological criteria, we analyzed the sublaminar distribution of different microstructural elements and the associated maturational gradients throughout development, using immunocytochemical and histological techniques on postmortem brain material (Zagreb Neuroembryological Collection). Read More
J Appl Behav Anal 2018 Dec 14. Epub 2018 Dec 14.
Children with autism spectrum disorder are typically taught conditional discriminations using a match-to-sample arrangement. Consideration should be given to the temporal order in which antecedent stimuli (the sample and comparison stimuli) are presented during match-to-sample trials, as various arrangements have been used in the extant literature. The purpose of the current study was to compare the effects of four stimulus presentation orders on the acquisition of auditory-visual conditional discriminations. Read More
Dev Med Child Neurol 2018 Dec 13. Epub 2018 Dec 13.
Children's Neurosciences, Evelina London Children's Hospital, St Thomas' Hospital, King's Health Partners Academic Health Science Centre, London, UK.
Aim: In an attempt to clarify the debate surrounding the diagnostic validity of childhood disintegrative disorder (CDD), we systematically reviewed its characteristics and compared it with autism spectrum disorder (ASD).
Method: Four databases were searched (PubMed, PsycINFO, Embase, and Web of Science). Included articles had participants with CDD, as defined by symptoms present in the criteria of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision and the International Classification of Diseases, 10th Revision. Read More
Autism Res 2018 Dec 12. Epub 2018 Dec 12.
Department of Occupational Therapy Jefferson, College of Health Professions Faculty, Farber Institute for Neurosciences Thomas Jefferson University Philadelphia, Pennsylvania.
Sensory integration is one of the most highly utilized interventions in autism, however, a lack of consensus exists regarding its evidence base. An increasing number of studies are investigating the effectiveness of this approach. This study used the Council for Exceptional Children (CEC) Standards for Evidence-based Practices in Special Education to evaluate the effectiveness research from 2006 to 2017 on Ayres Sensory Integration (ASI) intervention for children with autism. Read More
Autism Res 2018 Dec 12. Epub 2018 Dec 12.
Institute of Medical Device and Imaging, National Taiwan University College of Medicine, Taipei, Taiwan.
Investigating social behaviors and brain structural alterations in unaffected siblings of individuals with autism spectrum disorder (ASD) may help identify intermediate phenotypes of social communication deficits in ASD. This study hypothesized that such intermediate phenotypes could be identified in white matter tracts of the social communication model that exhibited reduced tract integrity and associations with social communication deficits. Boys with ASD (N = 30), unaffected male siblings (N = 27), and typically developing (TD) boys (N = 30) underwent clinical evaluation and MRI scanning. Read More
Health Soc Care Community 2018 Dec 12. Epub 2018 Dec 12.
University of South Australia, Adelaide, South Australia, Australia.
The diagnostic process for children with autism can be complex for parents to navigate as they advocate for their child in order to obtain answers to their concerns, and receive the subsequent support they need. Gaining an understanding of parents' experiences during this process, will assist service providers in supporting families adequately. This systematic review was undertaken to consolidate in-depth qualitative data from parents of their experience of advocating for their child with autism, during the process of diagnosis. Read More
Dev Med Child Neurol 2018 Dec 12. Epub 2018 Dec 12.
Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Down syndrome disintegrative disorder (DSDD) is an increasingly identified condition characterized by cognitive decline, autistic characteristics, insomnia, catatonia, and psychosis in adolescents and young adults with Down syndrome. Previously we reported a higher rate of autoimmune thyroid disease in these patients compared with unaffected individuals with Down syndrome. We therefore hypothesized DSDD may in some cases be immune-mediated. Read More
Nurs Health Sci 2018 Dec 11. Epub 2018 Dec 11.
Young Psychiatric Clinic, New Taipei, Taiwan.
Autism spectrum disorder has only recently been recognized as a developmental disability in Taiwan. We conducted an exploratory qualitative descriptive study with children (n = 14, mean age = 13.57 years) and their parents to understand stressors experienced by children with autism spectrum disorder in Taiwan. Read More
Dev Neurobiol 2018 Dec 11. Epub 2018 Dec 11.
CNR Neuroscience Institute, Milan, Italy.
Since the first observation that described a patient with a mutation in IL1RAPL1 gene associated with intellectual disability in 1999, the function of IL1RAPL1 have been extensively studied by a number of laboratories. In this review, we summarize all the major data describing the synaptic and neuronal functions of IL1RAPL1 and recapitulate most of the genetic deletion identified in humans and associated to intellectual disability (ID) and autism spectrum disorders (ASD). All the data clearly demonstrate that IL1RAPL1 is a synaptic adhesion molecule localized at the postsynaptic membrane. Read More
BMC Syst Biol 2018 Dec 14;12(Suppl 7):91. Epub 2018 Dec 14.
Department of Genetics and Biochemistry, Clemson University, Clemson, SC, 29646, USA.
Background: Autism Spectrum Disorder (ASD) is the umbrella term for a group of neurodevelopmental disorders convergent on behavioral phenotypes. While many genes have been implicated in the disorder, the predominant focus of previous research has been on protein coding genes. This leaves a vast number of long non-coding RNAs (lncRNAs) not characterized for their role in the disorder although lncRNAs have been shown to play important roles in development and are highly represented in the brain. Read More
Autism 2018 Dec 14:1362361318818167. Epub 2018 Dec 14.
1 Coventry University, UK.
Previous research shows that autistic people have high levels of co-occurring mental health conditions. Yet, a number of case reports have revealed that mental health conditions are often misdiagnosed in autistic individuals. A total of 420 adults who identified as autistic, possibly autistic or non-autistic completed an online survey consisting of questions regarding mental health diagnoses they received, whether they agreed with those diagnoses and if not why. Read More
Autism 2018 Dec 14:1362361318817716. Epub 2018 Dec 14.
1 Leiden University, The Netherlands.
Reduced empathy and alexithymic traits are common across the autism spectrum, but it is unknown whether this is also true for intellectually advanced adults with autism spectrum disorder. The aim of this study was to examine whether college students with autism spectrum disorder experience difficulties with empathy and alexithymia, and whether this is associated with their cognitive levels of executive functioning. In total, 53 college students with autism spectrum disorder were compared to a gender-matched group of 29 neurotypical students on cognitive and affective dimensions of empathy and alexithymia. Read More
J Autism Dev Disord 2018 Dec 13. Epub 2018 Dec 13.
Department of Psychology, University of Toronto Mississauga, Deerfield Hall, 3359 Mississauga Road, Office 4098, Mississauga, ON, L5L 1C6, Canada.
Gender variance (GV) and autism spectrum disorder (ASD) frequently co-occur in clinical populations. We investigated GV in association with ASD characteristics in nonclinical children and in children with developmental/mental health diagnoses. In 6-12-year-olds (N = 2445; 51% birth-assigned boys), the Gender Identity Questionnaire for Children measured GV and the Children's Social Behavior Questionnaire measured six subdomains of ASD characteristics. Read More
J Autism Dev Disord 2018 Dec 13. Epub 2018 Dec 13.
Department of Psychiatry, Seoul National University Bundang Hospital, 82, Gumi-ro 173beon-gil, Bundang-gu, Seongnam, Gyeonggi, 13620, South Korea.
Few studies have investigated the effect of age on treatment effectiveness of evidence-based social skills training in autism spectrum disorder (ASD) adolescents. This study evaluated the effectiveness of Program for the Education and Enrichment of Relational Skills (PEERS) in different ages of ASD adolescents. A total of 110 ASD adolescents aged 11-19 years were divided into early, middle, and late adolescence groups, and the changes in outcome measures following intervention were compared among the three groups. Read More
Glob Pediatr Health 2018 29;5:2333794X18815412. Epub 2018 Nov 29.
Florida International University, Miami, FL, USA.
Air Qual Atmos Health 2018 25;11(10):1137-1142. Epub 2018 Sep 25.
1Department of Infrastructure Engineering, Melbourne School of Engineering, The University of Melbourne, Parkville, Victoria 3010 Australia.
Fragranced consumer products, such as cleaning supplies, air fresheners, and personal care products, can have adverse effects on both air quality and health. This study investigates the effects of fragranced products on autistic individuals ages 18-65 in the United States, Australia, and United Kingdom. Nationally representative population surveys ( = 1137; 1098; 1100) found that, across the three countries, 4. Read More
J Exp Neurosci 2018 2;12:1179069518816088. Epub 2018 Dec 2.
Department of Neurobiology, University of Massachusetts Medical School, Worcester, MA, USA.
The development of the nervous system requires precise outgrowth, extension, and wiring of both axons and dendrites to generate properly functioning neural circuits. The molecular mechanisms that shape neurite development, in particular dendritic development, remain incompletely understood. Dendrites are often highly branched and coated with actin-filled, thorny protrusions, called dendritic spines, that allow for increased numbers of synaptic contacts with neighboring neurons. Read More
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2018 Dec 11. Epub 2018 Dec 11.
Department of Child Psychiatry, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
Aims: The aim of our study was to assess the yield of routine brain magnetic resonance imaging (MRI) performed at our hospital as part of the diagnostic procedures focused on autism.
Methods: Our retrospective study involved children who had attended a diagnostic examination focused on autism and underwent brain MRIs between 1998-2015. The International Classification of Diseases, 10 edition was used to make clinical diagnoses. Read More
Science 2018 Dec;362(6420)
Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT 06520, USA.
Despite progress in defining genetic risk for psychiatric disorders, their molecular mechanisms remain elusive. Addressing this, the PsychENCODE Consortium has generated a comprehensive online resource for the adult brain across 1866 individuals. The PsychENCODE resource contains ~79,000 brain-active enhancers, sets of Hi-C linkages, and topologically associating domains; single-cell expression profiles for many cell types; expression quantitative-trait loci (QTLs); and further QTLs associated with chromatin, splicing, and cell-type proportions. Read More
Science 2018 Dec;362(6420)
Department of Psychiatry, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, 695 Charles E. Young Drive South, Los Angeles, CA 90095, USA.
Most genetic risk for psychiatric disease lies in regulatory regions, implicating pathogenic dysregulation of gene expression and splicing. However, comprehensive assessments of transcriptomic organization in diseased brains are limited. In this work, we integrated genotypes and RNA sequencing in brain samples from 1695 individuals with autism spectrum disorder (ASD), schizophrenia, and bipolar disorder, as well as controls. Read More
Science 2018 Dec 13;362(6420). Epub 2018 Dec 13.
Department of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT, USA.
Human nervous system development is an intricate and protracted process that requires precise spatiotemporal transcriptional regulation. We generated tissue-level and single-cell transcriptomic data from up to 16 brain regions covering prenatal and postnatal rhesus macaque development. Integrative analysis with complementary human data revealed that global intraspecies (ontogenetic) and interspecies (phylogenetic) regional transcriptomic differences exhibit concerted cup-shaped patterns, with a late fetal-to-infancy (perinatal) convergence. Read More
Science 2018 Dec;362(6420)
Genes implicated in neuropsychiatric disorders are active in human fetal brain, yet difficult to study in a longitudinal fashion. We demonstrate that organoids from human pluripotent cells model cerebral cortical development on the molecular level before 16 weeks postconception. A multiomics analysis revealed differentially active genes and enhancers, with the greatest changes occurring at the transition from stem cells to progenitors. Read More
Science 2018 Dec;362(6420)
Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, CA, USA.
Whole-genome sequencing (WGS) has facilitated the first genome-wide evaluations of the contribution of de novo noncoding mutations to complex disorders. Using WGS, we identified 255,106 de novo mutations among sample genomes from members of 1902 quartet families in which one child, but not a sibling or their parents, was affected by autism spectrum disorder (ASD). In contrast to coding mutations, no noncoding functional annotation category, analyzed in isolation, was significantly associated with ASD. Read More
Science 2018 Dec;362(6420)
Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10027, USA.
To explore the developmental reorganization of the three-dimensional genome of the brain in the context of neuropsychiatric disease, we monitored chromosomal conformations in differentiating neural progenitor cells. Neuronal and glial differentiation was associated with widespread developmental remodeling of the chromosomal contact map and included interactions anchored in common variant sequences that confer heritable risk for schizophrenia. We describe cell type-specific chromosomal connectomes composed of schizophrenia risk variants and their distal targets, which altogether show enrichment for genes that regulate neuronal connectivity and chromatin remodeling, and evidence for coordinated transcriptional regulation and proteomic interaction of the participating genes. Read More
Pediatrics 2018 Dec 13. Epub 2018 Dec 13.
Massachusetts General Hospital, Boston, Massachusetts; and
A healthy 17-year-old boy with a high-functioning pervasive developmental disorder presented to the emergency department after having a 4-minute episode of seizure-like activity in the setting of presumed viral gastroenteritis. Within an hour of emergency department arrival, he developed a forehead-sparing facial droop, right-sided ptosis, and expressive aphasia, prompting stroke team assessment and urgent neuroimaging. Laboratory results later revealed a serum sodium of 119 mmol/L. Read More
Nutr Neurosci 2018 Dec 13:1-12. Epub 2018 Dec 13.
a Unit of Endocrinology and Metabolic Diseases, Department of Systems Medicine , CTO Andrea Alesini Hospital, University Tor Vergata , Rome , Italy.
Introduction: Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by abnormal development of cognitive, social, and communicative skills. Although ASD aetiology and pathophysiology are still unclear, various nutritional factors have been investigated as potential risk factors for ASD development, including omega-3 polyunsaturated fatty acids (PUFAs) and vitamin D deficiency. In fact, both omega-3 PUFAs and vitamin D are important for brain development and function. Read More
Minerva Gastroenterol Dietol 2018 Dec 14. Epub 2018 Dec 14.
Dipartimento Chirurgico, Odontoiatrico e di Scienze Morfologiche con Interesse Trapiantologico, Oncologico e di Medicina Rigenerativa, Università degli Studi di Modena e Reggio Emilia, Modena, Italy -
A gluten-free diet is the safest treatment for the treatment of patient with celiac disease (CD) and other gluten-related disorders. However, in the last years, gluten-free diet is one of the most popular diet followed by the general population and by patients affected from others clinical conditions, such as non-celiac gluten sensitivity (NCGS), irritable bowel syndrome (IBS), autism, neurological, psychiatric and rheumatologic diseases and for improving sports practice. This review highlights some questions about the appropriateness of follow this trend answering to some questions such as how safe are the current gluten-free products, what are the benefits and side effects of gluten-free diet and what are clinical conditions that might benefit from gluten avoidance. Read More
Children (Basel) 2018 Dec 11;5(12). Epub 2018 Dec 11.
Institute of Nursing and Health Research, Ulster University, Newtownabbey BT37 0QB, Northern Ireland, UK.
Parents of children with developmental disabilities face many challenges. Those who are less satisfied with the care-giving that their children receive may require extra support. This paper reports the development of a Parental Satisfaction with Caring for a child with Developmental Disability Index (PSCDDI), with items derived from literature reviews and pilot testing in Iran. Read More
Int J Environ Res Public Health 2018 Dec 10;15(12). Epub 2018 Dec 10.
Department of Dermatology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
There have been many public health recommendations for avoiding UV radiation exposures. This is primarily due to concerns about skin cancer and especially melanoma, the most serious type of skin cancer. However, UV radiation is also known as the primary source of vitamin D and other compounds needed for good health. Read More
Alcohol 2018 Jun 12;76:23-28. Epub 2018 Jun 12.
School of Health and Society, University of Salford, Salford, England, United Kingdom.
Disentangling the relative developmental impact of prenatal alcohol exposure from postnatal neglect is clinically valuable for informing future service provision. In this study, developmental outcomes across groups are compared in a 'natural experiment'.
Methods: Clinical data from 99 persons with fetal alcohol spectrum disorder (FASD) diagnoses were audited. Read More
Brain Connect 2018 Dec 13. Epub 2018 Dec 13.
University of Utah, Scientific Computing and Imaging Institute , 72 South Central Campus Drive , SALT LAKE CITY, Utah, United States , 84112.
A large body of evidence relates autism with abnormal structural and functional brain connectivity. Structural covariance MRI (scMRI) is a technique that maps brain regions with covarying gray matter density across subjects. It provides a way to probe the anatomical structure underlying intrinsic connectivity networks (ICNs) through the analysis of gray matter signal covariance. Read More
J Autism Dev Disord 2018 Dec 12. Epub 2018 Dec 12.
Heep Hong Society, Hong Kong, People's Republic of China.
The Psychoeducational Profile 3rd Edition (PEP-3) is a comprehensive assessment tool designed for children with autism spectrum disorder (ASD). Although its original English version has been validated, few validation studies have been conducted on translated versions including Chinese ones. Based on 554 Chinese children with ASD and 311 typically developing Chinese children as the control group, this study investigated the psychometric properties of a simplified Chinese PEP-3 (sCPEP-3) in China mainland. Read More
J Autism Dev Disord 2018 Dec 12. Epub 2018 Dec 12.
Department of Psychological Sciences, Purdue University, 703 Third Street, West Lafayette, IN, 47907, USA.
Children with neurogenetic syndromes (NGS) experience comorbid challenging behaviors and psychopathology. We examined challenging behaviors in 86 toddlers and preschoolers across three NGS [Angelman syndrome (AS), Prader-Willi syndrome (PWS), and Williams syndrome (WS)] and 43 low-risk controls (LRC), using the Child Behavior Checklist for Ages 1½-5. Challenging behavior profiles differed across NGS, with generally elevated behaviors in AS and WS, but not PWS, relative to LRC. Read More
Eur Arch Paediatr Dent 2018 Dec 12. Epub 2018 Dec 12.
Centre de Recherche en Education de Nantes, EA2661, Chemin de la Censive du Tertre, BP 81227, 44312, Nantes Cedex 3, France.
Aim: To present a training programme for teaching children and adolescents with autism spectrum disorder (ASD), to be compliant with a dental examination.
Methods: Fifty-two children and adolescents with ASD (age range 3-19 years) with a parent-signed consent form were enrolled. Dental examinations were performed once a month in education centres by a paediatric dentist using a visual activity schedule on an iPad that was created with a digital application, çATED. Read More
Exp Ther Med 2018 Dec 9;16(6):5373-5375. Epub 2018 Oct 9.
Department of Educational Sciences, University of Catania, I-95123 Catania, Italy.
Problems arising on the autistic spectrum are more common in male individuals, leading scholars to attempt to determine whether there is a correlation with testosterone levels to which fetuses were exposed during intrauterine life. The aim of the present study was to investigate, through the digit ratio technique, the possible correlation between testosterone exposure during intrauterine life and the achievement of predetermined objectives during the educational program Treatment and Education of Autistic and Related Communication Handicapped Children (TEACCH) in a group of subjects with different forms of autism. The results showed a positive correlation of the TEACCH program and 2D:4D ratio. Read More
Front Neurosci 2018 27;12:869. Epub 2018 Nov 27.
Keck School of Medicine of USC, University of Southern California, Los Angeles, CA, United States.
Two approaches to understanding the etiology of neurodevelopmental disorders such as Autism Spectrum Disorder (ASD) involve network level functional connectivity (FC) and the dynamics of neuronal signaling. The former approach has revealed both increased and decreased FC in individuals with ASD. The latter approach has found high frequency EEG oscillations and higher levels of epilepsy in children with ASD. Read More
J Hum Genet 2018 Dec 12. Epub 2018 Dec 12.
Department of Molecular and Human Genetics, Baylor College of Medicine, 1 Baylor Plaza, Houston, TX, 77030, USA.
In view of conflicting reports on the pathogenicity of 15q11.2 CNVs of the breakpoints 1-2 (BP1-BP2) region and lack of association with a specific phenotype, we collected phenotypic data on 51,462 patients referred for genetic testing at two centers (Magee-Womens Hospital of UPMC and Baylor Genetics Laboratories, Baylor College of Medicine). Using array CGH, 262 patients with deletions and 215 with duplications were identified and tested for their association with four phenotypes (developmental delay, dysmorphic features, autism group of disorders, and epilepsy/seizures). Read More
Neurology 2018 Dec 12. Epub 2018 Dec 12.
From the Epilepsy Research Centre (D.R.M.V., B.J.S., R.B., M.F.B., S.F.B., M.S.H., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Departments of Genetics (D.R.M.V., C.M.A.v.R.-A.) and Neurology (D.R.M.V.), University Medical Center Groningen, University of Groningen, the Netherlands; Pediatric Neurology Unit and Laboratories (D.M., M.M.) and Pediatric Neurology (R.G.), Neurogenetics and Neurobiology Unit and Laboratories, A. Meyer Children's Hospital, University of Florence, Italy; Department of Pediatrics and Pediatric Epilepsy Centre (H.X., W.X.W., Y.J.), Peking University First Hospital, Beijing, China; Department of Pediatrics (C.T.M., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Population Health and Immunity Division (M.F.B.), Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia; Department of Medical Biology (M.F.B.), University of Melbourne, Australia; Caulfield (D.W.), Melbourne, Australia; Department of Clinical Genetics (S.M.M.), Academic Medical Centre, Amsterdam, the Netherlands; Department of Clinical Genetics (A.S.B., G.M.S.M., I.M.B.H.v.d.L.), Erasmus University Medical Centre, Rotterdam, the Netherlands; Department of Clinical Genetics (J.M.v.H.), VU University Medical Center, Amsterdam, the Netherlands; Tasmanian Health Service (T.L.W.), Women's and Children's Services, Launceston General Hospital, Tasmania, Australia; TY Nelson Department of Neurology and Neurosurgery (R.I.W.) and Institute of Neuroscience and Muscle Research (R.I.W.), Children's Hospital at Westmead, Sydney, New South Wales, Australia; Department of Neurosciences (S.M.), Lady Cilento Children's Hospital, Brisbane, Australia; Department of Anatomical Pathology (R.M.K.), Austin Hospital, Melbourne, Australia; IRCCS Stella Maris Foundation (F.S., R.G.), Pisa, Italy; Klinikum Oldenburg (G.C.K.), Zentrum für Kinder-und Jugendmedizin, Klinik für Neuropädiatrie u.angeborene Stoffwechselerkrankungen, Germany; Centre of Epilepsy (Y.J.), Beijing Institute for Brain Disorders, China; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Australia; and Florey Institute of Neurosciences and Mental Health (I.E.S.), Australia.
Objective: To delineate the epileptology, a key part of the phenotypic spectrum, in a large patient cohort.
Methods: Patients were recruited via investigators' practices or social media. We included patients with (likely) pathogenic variants or chromosome 6p21. Read More